| 1. | 5'-Nucleotidase Syndrome (1 study) |
| 2. | Abetalipoproteinemia (2 studies) |
| 3. | Abnormalities (649 studies) |
| 4. | Abnormalities, Multiple (29 studies) |
| 5. | Abnormalities, Radiation-Induced (1 study) |
| 6. | Achondroplasia (1 study) |
| 7. | Adrenal Hyperplasia, Congenital (4 studies) |
| 8. | Adrenoleukodystrophy (6 studies) |
| 9. | Alagille Syndrome (2 studies) |
| 10. | Albinism (3 studies) |
| 11. | Albinism, Ocular (1 study) |
| 12. | Albinism, Oculocutaneous (1 study) |
| 13. | Alkaptonuria (1 study) |
| 14. | alpha-Mannosidosis (2 studies) |
| 15. | Amino Acid Metabolism, Inborn Errors (2 studies) |
| 16. | Anemia, Diamond-Blackfan (18 studies) |
| 17. | Anemia, Hemolytic, Congenital (66 studies) |
| 18. | Anemia, Hypoplastic, Congenital (18 studies) |
| 19. | Anemia, Sickle Cell (51 studies) |
| 20. | Angelman Syndrome (1 study) |
| 21. | Aniridia (1 study) |
| 22. | Anodontia (1 study) |
| 23. | Anophthalmos (1 study) |
| 24. | Antithrombin III Deficiency (1 study) |
| 25. | Aortic Coarctation (1 study) |
| 26. | Arnold-Chiari Malformation (2 studies) |
| 27. | Arrhythmogenic Right Ventricular Dysplasia (1 study) |
| 28. | Arteriovenous Fistula (1 study) |
| 29. | Arteriovenous Malformations (2 studies) |
| 30. | Asphyxia Neonatorum (1 study) |
| 31. | Bardet-Biedl Syndrome (1 study) |
| 32. | Basal Cell Nevus Syndrome (2 studies) |
| 33. | beta-Oxidation Disorder (1 study) |
| 34. | beta-Thalassemia (17 studies) |
| 35. | Bifunctional Enzyme Deficiency (2 studies) |
| 36. | Biliary Atresia (2 studies) |
| 37. | Blood Coagulation Disorders, Inherited (24 studies) |
| 38. | Bloom Syndrome (1 study) |
| 39. | Brain Diseases, Metabolic, Inborn (57 studies) |
| 40. | Bronchopulmonary Dysplasia (16 studies) |
| 41. | Cardiovascular Abnormalities (30 studies) |
| 42. | Caroli Disease (1 study) |
| 43. | Chorioamnionitis (2 studies) |
| 44. | Chromosome Disorders (23 studies) |
| 45. | Cleft Lip (2 studies) |
| 46. | Cleft Palate (3 studies) |
| 47. | Cockayne Syndrome (1 study) |
| 48. | Coloboma (1 study) |
| 49. | Colorectal Neoplasms, Hereditary Nonpolyposis (2 studies) |
| 50. | Congenital Cytomegalovirus (3 studies) |
| 51. | Congenital Heart Block (2 studies) |
| 52. | Congenital, Hereditary, and Neonatal Diseases and Abnormalities (535 studies) |
| 53. | Conotruncal Cardiac Defects (2 studies) |
| 54. | Craniofacial Abnormalities (8 studies) |
| 55. | Craniosynostoses (1 study) |
| 56. | Cystic Fibrosis (45 studies) |
| 57. | Cystinosis (8 studies) |
| 58. | Dermatitis, Atopic (2 studies) |
| 59. | Dextrocardia (1 study) |
| 60. | DiGeorge Syndrome (4 studies) |
| 61. | Digestive System Abnormalities (4 studies) |
| 62. | Down Syndrome (4 studies) |
| 63. | Ductus Arteriosus, Patent (3 studies) |
| 64. | Dyskeratosis Congenita (2 studies) |
| 65. | Dysmorphic Syndromes (71 studies) |
| 66. | Ectodermal Dysplasia (1 study) |
| 67. | Ehlers-Danlos Syndrome (2 studies) |
| 68. | Endocardial Cushion Defects (2 studies) |
| 69. | Epidermolysis Bullosa (4 studies) |
| 70. | Epidermolysis Bullosa Acquisita (1 study) |
| 71. | Erythroblastosis, Fetal (1 study) |
| 72. | Eye Abnormalities (3 studies) |
| 73. | Eye Diseases, Hereditary (16 studies) |
| 74. | Fabry Disease (14 studies) |
| 75. | Factor XIII Deficiency (1 study) |
| 76. | Fanconi Anemia (15 studies) |
| 77. | Fanconi Syndrome (4 studies) |
| 78. | Favism (1 study) |
| 79. | Fetal Diseases (6 studies) |
| 80. | Fetal Growth Retardation (1 study) |
| 81. | Fragile X Syndrome (1 study) |
| 82. | Fraser Syndrome (1 study) |
| 83. | Friedreich Ataxia (3 studies) |
| 84. | Fryns Syndrome (1 study) |
| 85. | Fucosidosis (2 studies) |
| 86. | Gangliosidoses (2 studies) |
| 87. | Gangliosidoses GM2 (1 study) |
| 88. | Gangliosidosis GM1 (1 study) |
| 89. | Gaucher Disease (12 studies) |
| 90. | Genetic Diseases, Inborn (423 studies) |
| 91. | Genetic Diseases, X-Linked (56 studies) |
| 92. | Glucosephosphate Dehydrogenase Deficiency (2 studies) |
| 93. | Glycogen Storage Disease (8 studies) |
| 94. | Glycogen Storage Disease Type II (8 studies) |
| 95. | Glycogen Storage Disease Type VII (1 study) |
| 96. | Gonadal Dysgenesis (8 studies) |
| 97. | Gout (1 study) |
| 98. | Granulomatous Disease, Chronic (13 studies) |
| 99. | Gyrate Atrophy (2 studies) |
| 100. | Hamartoma Syndrome, Multiple (1 study) |
| 101. | Heart Defects, Congenital (29 studies) |
| 102. | Heart Septal Defects (5 studies) |
| 103. | Heart Septal Defects, Atrial (3 studies) |
| 104. | Heart Septal Defects, Ventricular (5 studies) |
| 105. | Hemochromatosis (8 studies) |
| 106. | Hemoglobin SC Disease (4 studies) |
| 107. | Hemoglobinopathies (63 studies) |
| 108. | Hemophilia A (15 studies) |
| 109. | Hemophilia B (6 studies) |
| 110. | Hepatolenticular Degeneration (2 studies) |
| 111. | Hereditary Central Nervous System Demyelinating Diseases (7 studies) |
| 112. | Hereditary Motor and Sensory Neuropathies (1 study) |
| 113. | Holoprosencephaly (2 studies) |
| 114. | Homocystinuria (1 study) |
| 115. | Huntington Disease (8 studies) |
| 116. | Hyaline Membrane Disease (1 study) |
| 117. | Hydrocephalus (1 study) |
| 118. | Hydrolethalus Syndrome (1 study) |
| 119. | Hypercholesterolemia, Familial (6 studies) |
| 120. | Hyperhomocysteinemia (4 studies) |
| 121. | Hyperkeratosis, Epidermolytic (1 study) |
| 122. | Hyperlipidemia, Familial Combined (12 studies) |
| 123. | Hyperlipoproteinemia Type IV (1 study) |
| 124. | Hypobetalipoproteinemia (1 study) |
| 125. | Hypokalemic Periodic Paralysis (1 study) |
| 126. | Hypolipoproteinemia (5 studies) |
| 127. | Hypoplastic Left Heart Syndrome (1 study) |
| 128. | Ichthyosiform Erythroderma, Congenital (2 studies) |
| 129. | Ichthyosis (4 studies) |
| 130. | Ichthyosis, Lamellar (2 studies) |
| 131. | Ichthyosis, X-Linked (1 study) |
| 132. | Infant, Newborn, Diseases (540 studies) |
| 133. | Infant, Premature, Diseases (5 studies) |
| 134. | Jaundice, Neonatal (1 study) |
| 135. | Jaw Abnormalities (3 studies) |
| 136. | Kallmann Syndrome (1 study) |
| 137. | Kartagener Syndrome (1 study) |
| 138. | Keratoderma, Palmoplantar (1 study) |
| 139. | Keratoderma, Palmoplantar, Diffuse (1 study) |
| 140. | Keratosis Follicularis (2 studies) |
| 141. | Klinefelter Syndrome (1 study) |
| 142. | Kugelberg-Welander Syndrome (1 study) |
| 143. | Lafora Disease (1 study) |
| 144. | Leprechaunism (1 study) |
| 145. | Lesch-Nyhan Syndrome (1 study) |
| 146. | Leukodystrophy, Globoid Cell (3 studies) |
| 147. | Leukodystrophy, Metachromatic (3 studies) |
| 148. | Leukomalacia, Periventricular (2 studies) |
| 149. | Li-Fraumeni Syndrome (1 study) |
| 150. | Limb Deformities, Congenital (1 study) |
| 151. | Lipid Metabolism, Inborn Errors (5 studies) |
| 152. | Lipoidosis (30 studies) |
| 153. | Lissencephaly (1 study) |
| 154. | Lysosomal Storage Diseases (47 studies) |
| 155. | Lysosomal Storage Diseases, Nervous System (37 studies) |
| 156. | Mannosidase Deficiency Diseases (2 studies) |
| 157. | Marfan Syndrome (1 study) |
| 158. | Maxillofacial Abnormalities (3 studies) |
| 159. | Meconium Aspiration (3 studies) |
| 160. | MELAS Syndrome (2 studies) |
| 161. | Meningomyelocele (1 study) |
| 162. | Menkes Kinky Hair Syndrome (1 study) |
| 163. | Mental Retardation, X-Linked (14 studies) |
| 164. | Metabolism, Inborn Errors (144 studies) |
| 165. | Methylmalonic Acidemia (1 study) |
| 166. | Microcephaly (1 study) |
| 167. | Microencephaly (1 study) |
| 168. | Microphthalmos (1 study) |
| 169. | Mouth Abnormalities (3 studies) |
| 170. | Mucolipidoses (2 studies) |
| 171. | Mucopolysaccharidoses (8 studies) |
| 172. | Mucopolysaccharidosis I (3 studies) |
| 173. | Mucopolysaccharidosis II (2 studies) |
| 174. | Mucopolysaccharidosis IV (16 studies) |
| 175. | Mucopolysaccharidosis VI (5 studies) |
| 176. | Multiple Endocrine Neoplasia (2 studies) |
| 177. | Multiple Endocrine Neoplasia Type 1 (1 study) |
| 178. | Muscular Dystrophies (14 studies) |
| 179. | Muscular Dystrophy, Duchenne (6 studies) |
| 180. | Muscular Dystrophy, Facioscapulohumeral (2 studies) |
| 181. | Musculoskeletal Abnormalities (10 studies) |
| 182. | Myelodysplasia (414 studies) |
| 183. | Myotonic Dystrophy (1 study) |
| 184. | Nail-Patella Syndrome (1 study) |
| 185. | Neoplastic Syndromes, Hereditary (33 studies) |
| 186. | Nephroblastoma (49 studies) |
| 187. | Nervous System Malformations (10 studies) |
| 188. | Neural Tube Defects (5 studies) |
| 189. | Neurocutaneous Syndromes (21 studies) |
| 190. | Neurofibromatoses (10 studies) |
| 191. | Neurofibromatosis 1 (6 studies) |
| 192. | Neurofibromatosis 2 (5 studies) |
| 193. | Neuronal Ceroid-Lipofuscinosis (1 study) |
| 194. | Niemann-Pick Diseases (3 studies) |
| 195. | Nystagmus, Congenital (1 study) |
| 196. | Oculodentodigital Syndrome (1 study) |
| 197. | Ophthalmia Neonatorum (1 study) |
| 198. | Opitz Syndrome (5 studies) |
| 199. | Ornithine Carbamoyltransferase Deficiency Disease (2 studies) |
| 200. | Osteogenesis Imperfecta (4 studies) |
| 201. | Pallister-Hall Syndrome (1 study) |
| 202. | Paralyses, Familial Periodic (1 study) |
| 203. | Paralysis, Hyperkalemic Periodic (1 study) |
| 204. | Pentalogy of Cantrell (1 study) |
| 205. | Peroxisomal Disorders (7 studies) |
| 206. | Persistent Fetal Circulation Syndrome (4 studies) |
| 207. | Peters Anomaly (1 study) |
| 208. | Peutz-Jeghers Syndrome (1 study) |
| 209. | Phenylketonurias (2 studies) |
| 210. | Polycystic Kidney Diseases (2 studies) |
| 211. | Polycystic Kidney, Autosomal Dominant (1 study) |
| 212. | Polycystic Kidney, Autosomal Recessive (1 study) |
| 213. | Polydactyly (2 studies) |
| 214. | Porencephaly (1 study) |
| 215. | Porphyria Cutanea Tarda (1 study) |
| 216. | Porphyria, Acute Intermittent (1 study) |
| 217. | Porphyria, Erythrohepatic (2 studies) |
| 218. | Porphyria, Erythropoietic (11 studies) |
| 219. | Porphyria, Hepatic (1 study) |
| 220. | Prader-Willi Syndrome (2 studies) |
| 221. | Proteus Syndrome (1 study) |
| 222. | Pseudohypoaldosteronism (1 study) |
| 223. | Pseudohypoparathyroidism (2 studies) |
| 224. | Pseudopseudohypoparathyroidism (1 study) |
| 225. | Pulmonary Atresia (1 study) |
| 226. | Purine-Pyrimidine Metabolism, Inborn Errors (1 study) |
| 227. | Refsum Disease (2 studies) |
| 228. | Respiratory Distress Syndrome, Newborn (21 studies) |
| 229. | Respiratory System Abnormalities (1 study) |
| 230. | Retinitis Pigmentosa (11 studies) |
| 231. | Retinopathy of Prematurity (4 studies) |
| 232. | Rett Syndrome (4 studies) |
| 233. | Rieger Syndrome (1 study) |
| 234. | Severe Combined Immunodeficiency (11 studies) |
| 235. | Sex Chromosome Disorders (10 studies) |
| 236. | Sex Differentiation Disorders (9 studies) |
| 237. | Shprintzen Syndrome (2 studies) |
| 238. | Shwachman Syndrome (3 studies) |
| 239. | Sickle Cell Trait (2 studies) |
| 240. | Sitosterolemia (6 studies) |
| 241. | Situs Inversus (1 study) |
| 242. | Skin Abnormalities (15 studies) |
| 243. | Skin Diseases, Genetic (23 studies) |
| 244. | Smith-Lemli-Opitz Syndrome (6 studies) |
| 245. | Smith-Magenis Syndrome (2 studies) |
| 246. | Spastic Paraplegia, Hereditary (1 study) |
| 247. | Sphingolipidoses (33 studies) |
| 248. | Spinal Dysraphism (2 studies) |
| 249. | Spinocerebellar Degenerations (6 studies) |
| 250. | Stargardt's Disease (2 studies) |
| 251. | Stickler Syndrome (1 study) |
| 252. | Stomatognathic System Abnormalities (5 studies) |
| 253. | Sturge-Weber Syndrome (21 studies) |
| 254. | Syndactyly (2 studies) |
| 255. | Synostosis (2 studies) |
| 256. | Tangier Disease (1 study) |
| 257. | Tay-Sachs Disease (1 study) |
| 258. | Tetralogy of Fallot (2 studies) |
| 259. | Thalassemia (24 studies) |
| 260. | Tooth Abnormalities (2 studies) |
| 261. | Tourette Syndrome (20 studies) |
| 262. | Transposition of Great Vessels (3 studies) |
| 263. | Tricuspid Atresia (1 study) |
| 264. | Tuberous Sclerosis (5 studies) |
| 265. | Turner Syndrome (8 studies) |
| 266. | Tyrosinemias (2 studies) |
| 267. | Urogenital Abnormalities (11 studies) |
| 268. | Usher Syndrome (3 studies) |
| 269. | von Willebrand Disease (1 study) |
| 270. | Wagner-Stickler Syndrome (1 study) |
| 271. | Werner Syndrome (1 study) |
| 272. | Williams Syndrome (2 studies) |
| 273. | Wiskott-Aldrich Syndrome (5 studies) |
| 274. | Wolman Disease (2 studies) |
| 275. | Xanthomatosis, Cerebrotendinous (2 studies) |
| 276. | Xeroderma Pigmentosum (3 studies) |
| 277. | Zellweger Syndrome (2 studies) |
